Article ; Online: Highlighting the Dystonic Phenotype Related to GNAO1.
Movement disorders : official journal of the Movement Disorder Society
2022 Volume 37, Issue 7, Page(s) 1547–1554
Abstract: Background: Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early-onset epileptic encephalopathy and/or chorea.: Objective: The aim was to characterize the clinical and genetic features of patients with mild ...
Abstract | Background: Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early-onset epileptic encephalopathy and/or chorea. Objective: The aim was to characterize the clinical and genetic features of patients with mild GNAO1-related phenotype with prominent movement disorders. Methods: We included patients diagnosed with GNAO1-related movement disorders of delayed onset (>2 years). Patients experiencing either severe or profound intellectual disability or early-onset epileptic encephalopathy were excluded. Results: Twenty-four patients and 1 asymptomatic subject were included. All patients showed dystonia as prominent movement disorder. Dystonia was focal in 1, segmental in 6, multifocal in 4, and generalized in 13. Six patients showed adolescence or adulthood-onset dystonia. Seven patients presented with parkinsonism and 3 with myoclonus. Dysarthria was observed in 19 patients. Mild and moderate ID were present in 10 and 2 patients, respectively. Conclusion: We highlighted a mild GNAO1-related phenotype, including adolescent-onset dystonia, broadening the clinical spectrum of this condition. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. |
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MeSH term(s) | Dystonia/genetics ; Dystonic Disorders/genetics ; GTP-Binding Protein alpha Subunits, Gi-Go/genetics ; Humans ; Movement Disorders/genetics ; Parkinsonian Disorders/genetics ; Phenotype |
Chemical Substances | GNAO1 protein, human ; GTP-Binding Protein alpha Subunits, Gi-Go (EC 3.6.5.1) |
Language | English |
Publishing date | 2022-06-20 |
Publishing country | United States |
Document type | Journal Article ; Research Support, Non-U.S. Gov't |
ZDB-ID | 607633-6 |
ISSN | 1531-8257 ; 0885-3185 |
ISSN (online) | 1531-8257 |
ISSN | 0885-3185 |
DOI | 10.1002/mds.29074 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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